COL27A1, collagen type XXVII alpha 1 chain, 85301

N. diseases: 17; N. variants: 20
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 28276056 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 24986830 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. 19204719 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation. 19414009 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth. 20041163 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens. 17331945 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. 17693149 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. 12766169 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 7990924 1994
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 8001137 1994